IUGR and IGF abnormalities
Gene: CCDC8
CCDC8 (coiled-coil domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000169515
EnsemblGeneIds (GRCh37): ENSG00000169515
OMIM: 614145, Gene2Phenotype
CCDC8 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000169515
EnsemblGeneIds (GRCh37): ENSG00000169515
OMIM: 614145, Gene2Phenotype
CCDC8 is in 6 panels
3 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Rebecca Foulger (Genomics England curator)
Comment on phenotypes: Updated phenotype field to add in current OMIM disorder and ID (MIM:614205).Created: 17 Aug 2017, 9:32 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 3-M syndrome 3, 614205
- OMIM
- 614145
- Clinvar variants
- Variants in CCDC8
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
17 Aug 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for CCDC8 were set to 3-M syndrome 3, 614205
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for CCDC8 were set to 3M
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Oct 2015, Gel status: 0
Added New Source
Peter Clayton (University of Manchester)CCDC8 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
22 Oct 2015, Gel status: 0
Created
Peter Clayton (University of Manchester)CCDC8 was created by peter.clayton